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Intellectual disability

Gene: FGF12

Green List (high evidence)

FGF12 (fibroblast growth factor 12)
EnsemblGeneIds (GRCh38): ENSG00000114279
EnsemblGeneIds (GRCh37): ENSG00000114279
OMIM: 601513, Gene2Phenotype
FGF12 is in 5 panels

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 4:15 p.m.
Sufficient cases, ID variable but seems appropriate for inclusion
Created: 31 Oct 2017, noon

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epileptic encephalopathy, early infantile, 47 617166

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : activating
Created: 27 Jul 2017, 5:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Mode of pathogenicity
Other

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications that support the association with the phenotype
Created: 19 Dec 2017, 2:39 p.m.
Comment on phenotypes: formatting corrected
Created: 30 Nov 2017, 3:48 p.m.
Comment on list classification: Evidences Key to SPEED NEURO gene list: in_ddg2p_20141118 : In DDG2P list date 20141118. PMID = 25529582. in_ddg2p_20141118_conf : In DDG2P list date 20141118 (subset category = confirmed).PMID = 25529582. in_ddg2p_201507 : In DDG2P list date 201507. PMID = 25529582. in_ddg2p_201507_conf : In DDG2P list date 201507 (subset category = confirmed). PMID = 25529582. in_ddg2p_2_4_2017 : In DDG2P list date 2_4_2017. PMID = 25529582. in_ddg2p_2_4_2017_conf : In DDG2P list date 2_4_2017 (subset category = confirmed). PMID = 25529582. in_gilissen_2014_known : In list of known intellectual disability associated genes published by Gilissen et al., 2014. PMID = 24896178. in_omim_20150205_epilepsies : In list of genes associated with "epilepsy" (and related terms) accessed 20150205. https://omim.org/. in_omim_20150205_movement : In list of genes associated with "movement disorder" (and related terms) accessed 20150205. https://omim.org/. in_omim_20150205_microcephaly : In list of genes associated with "microcephaly" (and related terms) accessed 20150205. https://omim.org/. in_movement_disorder_list : In a list of movement disorder associated genes. Personal communication. in_UKGTN_v12 : NHS Directory of Genetic Disorders/Genes for Diagnostic Testing Version 12. https://ukgtn.nhs.uk. in_manual : Genes of interest from literature searches and personal communications.
Created: 28 Jul 2017, 11:50 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Epileptic encephalopathy, early infantile, 47, 617166
OMIM
601513
Clinvar variants
Variants in FGF12
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FGF12 were set to 25529582; 27164707; 27830185; 27872899

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FGF12 were set to 25529582

30 Nov 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FGF12 were set to Epileptic encephalopathy, early infantile, 47, 617166

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to FGF12. Panel: Intellectual disability

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

FGF12 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

FGF12 was created by BRIDGE